MITOMAP References for Mutation T-C at 10663

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1 8680405 1995 Brown, M.D., Torroni, A., Reckord, C.L., Wallace, D.C. (1995) Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Human Mutation . 6 (4): 311-325 .
2 11935318 2002 Brown, M. D., Starikovskaya, Y. B., Derbeneva, O., Hosseini, S., Allen, J. C., Mikhailovskaya, I. E., Sukernik, R. I., Wallace, D. C. (2002) The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J Human Genetics . 110 (2): 130-138 .
3 16523671 2006 Volod'ko, N. V., L'Vova, M. A., Starikovskaya, E. B., Derbeneva, O. A., Bychkov, I. Y., Mikhailovskaya, I. E., Pogozheva, I. V., Fedotov, F. F., Soyan, G. V., Procaccio, V., Wallace, D. C., Sukernik, R. I. (2006) [Spectrum of pathogenic mtDNA mutations in Leber's hereditary optic neuropathy families from Siberia] Genetika (Russian Journal of Genetics) . 42 (1): 76-83 .
4 22879922 2012 Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., Reynier, P., La Morgia, C., Valentino, M. L., Liguori, R., Pizza, F., Barboni, P., Sadun, F., De Negri, A., Zeviani, M., Dollfus, H., Moulignier, A., Ducos, G., Orssaud, C., Bonneau, D., Procaccio, V., Leo-Kottler, B., Fauser, S., Wissinger, B., Amati-Bonneau, P., Torroni, A., Carelli, V. (2012) Rare primary mitochondrial DNA mutations and synergistic variants in Leber's hereditary optic neuropathy PLOS One . 7 (8): e42242 .
5 24568867 2014 Behbehani, R., Melhem, M., Alghanim, G., Behbehani, K., Alsmadi, O. (2014) ND4L gene concurrent 10609T>C and 10663T>C mutations are associated with Leber's hereditary optic neuropathy in a large pedigree from Kuwait British Journal of Ophthalmology . 98 (6): 826-831 .
6 20301353 2021 Yu-Wai-Man, P., Chinnery, P. F. (2021) Leber hereditary optic neuropathy [updated 2021 Mar 11] GeneReviews® M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, G. Mirza, A. Amemiya (): https://www.ncbi.nlm.nih.gov/books/NBK1174/ .
7 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
8 28991104 2017 Carelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagreze, W. A., La Morgia, C., Newman, N. J., Orssaud, C., Pott, J. W. R., Sadun, A. A., van Everdingen, J., Vignal-Clermont, C., Votruba, M., Yu-Wai-Man, P., Barboni, P. (2017) International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy Journal of Neuro-Ophthalmology . 37 (4): 371-381 .
9 15972314 2006 Mitchell, A. L., Elson, J. L., Howell, N., Taylor, R. W., Turnbull, D. M. (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Journal of Medical Genetics . 43 (2): 175-179 .
10 17003408 2006 Abu-Amero, K. K., Bosley, T. M. (2006) Mitochondrial abnormalities in patients with LHON-like optic neuropathies Investigative Ophthalmology and Visual Science . 47 (10): 4211-4220 .
11 18402672 2008 Alvarez-Iglesias, V., Barros, F., Carracedo, A., Salas, A. (2008) Minisequencing mitochondrial DNA pathogenic mutations [METHODS] BMC Medical Genetics . 9 (-): 26 .
12 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
13 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
14 29210930 2018 Jorstad, O. K., Odegaard, E. M., Heimdal, K. R., Kerty, E. (2018) Leber hereditary optic neuropathy caused by a mitochondrial DNA 10663T>C point mutation and its response to idebenone treatment Journal of Neuro-Ophthalmology . 38 (1): 129-131 .
15 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .
16 31817256 2019 Starikovskaya, E., Shalaurova, S., Dryomov, S., Nazhmidenova, A., Volodko, N., Bychkov, I., Mazunin, I., Sukernik, R. (2019) Mitochondrial DNA Variation of Leber's hereditary optic neuropathy in Western Siberia Cells . 8 (12): e1574 .